R465Q (p.Arg465Gln) variant of CASR (P41180)
R465Q (p.Arg465Gln) in CASR (P41180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R465Q (p.Arg465Gln) variant details
- p.Arg465Gln
- rs104893716
- ClinGen CA119537
- cosmic curated COSV99949
- ClinVar RCV000008857
- Pathogenic/Likely pathogenic
- Familial hypocalciuric hypercalcemia; Autosomal dominant hypocalcemia 1; Nephrol
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- CADD 24.30
- PolyPhen-2 0.24
- SIFT 0.61
- ClinVar: Pathogenic/Likely pathogenic (Familial hypocalciuric hypercalcemia; Autosomal dominant hypocal)
- EBI: Pathogenic (in HHC1)
- UniProt: Pathogenic (in HHC1)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Identification of a novel inactivating R465Q mutation of the calcium-sensing receptor. (PMID 16598859)
- Cited in: Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function. (PMID 10077597)